The course will focus on the following topics: The human genome: structure, organization and function. From the Human Genome project to ENCODE, 1000-Genomes, and beyond. Human DNA variability: extent and technologies. DNA polymorphisms as tools in forensic genetics and in medical genetic research. Identification of disease-genes and linkage analysis. Genes in pedigrees; inheritance of genetic diseases, genotype-phenotype correlations. Cystic fibrosis. The human hemoglobin: structure, organization and evolution of globin genes; hemoglobinopathies; sickle-cell anemia; molecular basis of thalassemias. Cancer genetics: oncogenes and tumor suppressor genes, genome instability. The genetic model of retinoblastoma. The sporadic and hereditary colorectal cancers. Epigenetics (histone code, DNA methylation, miRNAs); epigenetics and cancer. Complex diseases: the genetic component and the Genome Wide Association Studies (GWAS). Trinucleotide repeat disorders and Huntington’s disease. Pharmacogenetics and pharmacogenomics (applications in cancer treatment). The NGS approach: applications.
- Teacher: NATALIA SIMONA PELLEGATA